Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs119473033
rs119473033
0.878 0.250 2 216478216 stop gained G/T snp 8.0E-05 1.6E-04
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia
0.700 13 2002 2017
dbSNP: rs119473033
rs119473033
0.878 0.250 2 216478216 stop gained G/T snp 8.0E-05 1.6E-04
Steroid-resistant nephrotic syndrome
0.700 1 2015 2015
dbSNP: rs119473033
rs119473033
0.878 0.250 2 216478216 stop gained G/T snp 8.0E-05 1.6E-04
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs119473033
rs119473033
0.878 0.250 2 216478216 stop gained G/T snp 8.0E-05 1.6E-04
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
0.700 1 2015 2015
dbSNP: rs119473033
rs119473033
0.878 0.250 2 216478216 stop gained G/T snp 8.0E-05 1.6E-04
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile
0.700 1 2015 2015
dbSNP: rs119473033
rs119473033
0.878 0.250 2 216478216 stop gained G/T snp 8.0E-05 1.6E-04
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
0.700 1 2015 2015
dbSNP: rs119473033
rs119473033
0.878 0.250 2 216478216 stop gained G/T snp 8.0E-05 1.6E-04
Head circumference small for gestational age
0.700 1 2015 2015
dbSNP: rs119473033
rs119473033
0.878 0.250 2 216478216 stop gained G/T snp 8.0E-05 1.6E-04
Disproportionate short-trunk short stature
0.700 1 2015 2015
dbSNP: rs119473033
rs119473033
0.878 0.250 2 216478216 stop gained G/T snp 8.0E-05 1.6E-04
CUI: C0424688
Disease: Small head
Small head
0.700 1 2015 2015